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Variant (rsID / SNP)

rs886041691

KCNT1

rs886041691 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to KCNT1. Location: chromosome 9, position 138,661,828. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

KCNT1Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
9:138661828
Cytoband
9q34.3
HGVS
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val)
Allele change
Missense_M516V

Associated conditions / phenotypes

Malignant migrating partial seizures of infancy|Developmental and epileptic encephalopathy, 14

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.